Program Sponsors 2018

Sessions & Presenters


Positive Exposure: Seeing Beyond Diagnosis

Rick Guidotti

Learning Objectives:

  • Describe the social and psychological experiences of people of all ages and ethno-cultural heritages living with genetic, physical, behavioral and cognitive conditions.

Beginning with the world of fashion photography, the lecture will explore cultural perceptions of beauty in modern society while concurrently exploring cultural perceptions of people living with genetic, physical, behavioral and intellectual difference.  This investigative study will delve deeper by initially exploring the social and psychological experiences of people of all ages and ethno-cultural heritages living with albinism around the world.  Regions covered include: the United States, UK, Panama, Fiji, New Zealand, Australia, Malaysia, China and Korea as well as the African countries of Cameroon, Mali, South Africa, Kenya and Tanzania.  This global journey will further consider the importance of self-acceptance and self-esteem as necessary ingredients for bringing about self-advocacy with regards to individuals and their families living with difference.  Additional genetic conditions explored will include Chromosome 18, Marfan, Sturge Weber, Noonan Syndrome, Costello Syndrome, CFC and NF.  The importance of providing alternatives to imagery currently used in medical education will be addressed. Images of several genetic conditions will be presented as a stark contrast to existing imagery in medical education today, while also emphasizing that these alternative images filled with humanity still provide just as much information necessary for educational purposes.

  • Discuss ways to best meet the needs of children and families with, or at risk for a genetic disorder.

This lecture will create opportunities to hear from and explore the experiences of people living with a variety of genetic, physical, behavioral and intellectual differences. The lecture will not only provide a “lens” into a variety of genetic disorders, but also give a “voice” to those people featured in the photographs as well as that of their respective families.  Audiences will have the opportunity to hear from individuals and their families living with genetic disorders through innovative multi-media tools developed by Positive Exposure specifically designed to educate and provide insight into what it means to live with a genetic, physical, behavioral and intellectual difference.  Samples from Positive Exposure’s Faces Redefining the Art of Medical Education (FRAME) and Positive Exposure Ambassadors Real Life Stories (PEARLS) Project will be presented and discussed with regards to how such information helps healthcare providers better meet the needs of children and families with, or at risk for a genetic disorder.

  • Explore opportunities to see each individual living with a genetic difference first and foremost as a human being with his/her own special needs, rather than as a specific diagnosis/disease entity.

This lecture will facilitate experiential opportunities for audiences to see individuals and their families living with genetic, physical, behavioral and intellectual differences as people, not just as subjects.  Images and stories will be presented in contrast to assumptions about a person living with a particular genetic condition.  The lecture focuses on the hope and real lives of individuals and their families with, or at risk for a genetic disorder, and the importance of seeing and understanding the human side of genetics in medical education and healthcare today.

Evidence based genomic approaches to prenatal testing

Sylvie Langlois, Consultant and Reader in Clinical Genetics, St George's University of London, London, UK

At the end of the session, the participants will be able to:

  • Identify approaches and performance of NIPT for common aneuploidy.
  • Identify approaches and performance of NIPT for subchromosomal abnormalities.
  • Identify indications for NSG panel testing or whole exome sequencing in prenatal diagnosis.

Ethical, social and legal aspects of prenatal genomic testing and challenges raised by NIPT

Vardit Ravitsky, Associate Professor, Université de Montréal, Montréal QC

At the end of the session, the participants will be able to:

  • Identify and Discuss the ethical and social issues emerging from recent changes in prenatal testing pathway.
  • Identify the challenges of the disability rights critique of prenatal testing.
  • Recognize and be familiar with the possible legal implications of NIPT for clinicians.


The introduction of cell-free Fetal DNA testing, or Non-Invasive Prenatal Testing (NIPT), is gradually changing the landscape of prenatal testing. By providing results that are more reliable than serum screening, earlier in the pregnancy and without increased risk of miscrriage, NIPT represents great benefits for pregnant women. It reduces the number of invasive diagnostic tests, and consequently reduces fetal losses. Empirical studies show that women are indeed very interested in the test.     NIPT is gradualy shifting from a second-tier screening test offered only for high-risk pregnancies, to a first-tier screening test for all pregnant women. It may, at some point, be recognized as a diagnostic test for certain conditions. The probable routinization of NIPT raises numerous ethical and social challenges.    

The talk will address challenges related to:

  1. obtaining informed consent for a non-invasive screening test that poses no increased risk of miscarrage, in light of ongoing challenges surrounding consent for ‘traditional’ serum screening;
  2. a possible increase in detection of trisomy 21, leading to increased termination rate and as a result increased stigmatization of families raising children with special needs;
  3. the cost of NIPT as a barrier to access (since it is not publicly funded in most countries) and the associated equity and justice concerns.   

The talk will conclude with a focus on expanded use of NIPT, from trisomies and specific genetic conditions, all the way to whole genome sequenceing. What conditions should be screened for? This decision is not only clinically challenging, but also ethically sensitive, as it depends on social values. How should pre-test counseling be conducted considering the complexity of offering screening for a variety of conditions, when the reliability of NIPT for each is different, and when the clinical implications of each presents different issues? How should results be communicated to allow women informed choice in a context where they might receive several results at the same time, each indicating a different level of risk? This talk will discuss these challenges as described in the bioethics literature, using examples from a Canadian national study (called PEGASUS) that explored the implications of introducing NIPT into the Canadian healthcare system.   

The session will be of value to: Medical Geneticists, Ob-Gyns, Trainees, nurses, midwives.

The Future is NOW - Coping with the Challenges and Innovating Solutions in the Genetics Clinic & Laboratory.

Are you excited about the new technologies and discoveries in genetics or do you feel overwhelmed by the high volume and increasing complexity of cases for interpretation and counselling? Do your non-geneticist colleagues understand what you do?  Have you ever thought about how the model for the delivery of genetic services could be radically changed and improved?  This highly interactive workshop will be an opportunity for you to chart the next 5 years of medical genetics in Canada.

At the end of the session, the participants will be able to:

  • Identify the challenges facing genetic clinics and diagnostic laboratories in the era of genomic medicine
  • Describe innovative strategies for efficient and effective use of human and technical resources to optimally diagnose genetic conditions in the Canadian Healthcare System.
  • Establish ways to strengthen relationships between genetic laboratories and clinics and build partnerships beyond the traditional boundaries of medical genetics.

Genetics and pathobiology of renal ciliopathies

Heleen Arts, Molecular Geneticist in Training, Mcmaster University, Hamilton

Cilia appear and function as the antenna's of the cell. What happens if these organelles are defect in your kidneys? What if cilia dysfunction is not just limited to the kidney? What inheritance modes have been reported for renal ciliopathies? What do patients and their families wish for? What genetic features are important in molecular diagnostics for these disorders? I will highlight the cardinal clinical and molecular features of classic ciliary disorders ranging from isolated nephronophthisis to perinatal lethal syndromes such as Meckel-Gruber syndrome and short-rib thoracic dysplasias, which are often characterized by renal cystic dysplasia; you will be amazed by the enormous clinical and genetic heterogeneity that characterizes the renal ciliopathy spectrum. I will present some illustrative and challenging cases from my personal research experiences, and end this lecture with a brief discussion on therapeutic avenues.

At the end of the session, the participants will be able to:

  • Describe the structure of cilia and biology of cilia
  • Identify the clinical features of ciliopathies
  • Break down the molecular genetics of renal ciliopathies

Brain & Body Overgrowth: Genes, Pathways & Future Therapeutic Avenues

Ghayda Mirzaa, M/D/Assistant Professor, University of Washinton, Seattle, WA

At the end of the session, the participants will be able to:

  • Identify the molecular basis of human overgrowth syndromes
  • Examine the cellular pathways and functional defects underlying human overgrowth
  • Review future research opportunities including pre-clinic and clinical therapeutic avenues in human overgrowth syndromes


The rate of identification of genes underlying abnormal brain and body growth has increased over the past decade with the advent of high-depth Next Generation Sequencing (NGS) Methods. These disorders constitute a fascinating spectrum where cellular growth, morphology, and the pathogenesis of developmental problems such as autism and epilepsy can be all combined. The megalencephalic disorders in particular demonstrate the unexpected but now widely recognized critical role of tissue mosaicism in developmental brain diseases. The impact of this work on human health is high – already through the elucidation of the central role of the PI3K-AKT-MTOR pathway in megalencephaly syndromes – clinical trials using MTOR inhibitors are underway. The identification of additional biological targets in these disorders will allow these studies to expand. Furthermore, given the overlap of megalencephaly disorders with genetic conditions that cause epilepsy, treatments developed for megalencephaly syndromes may be translated to children with much more epilepsy disorders. This presentation will overview the most common genes and pathways associated with brain and body overgrowth, highlighting the potential to ultimately facilitate pathway-based therapies.

Therapeutic Drug Trials for Segmental Overgrowth: PIK3CA-Related Overgrowth Spectrum (PROS) and Proteus Syndrome

Kim Keppler-Noreuil, MD, Clinician Associate Investigator, Pediatrics/Clinical Genetics, Clinical Genomics Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD

At the end of the session, the participants will be able to:

  • Describe the key clinical findings and associated complications of the somatic overgrowth disorders: PIK3CA-Related Overgrowth Spectrum and Proteus syndrome
  • Recognize the important role of key genes in the PI3K/AKT/mTOR signaling pathway, and mechanisms of pathogenesis
  • Describe the underlying molecular etiologies and potential therapeutic strategies for PIK3CA-Related Overgrowth
  • Spectrum and Proteus syndrome
  • Identify the application of different clinical trial designs and potential endpoints for approved and investigational new drugs for segmental overgrowth disorders


The PI3K/AKT/mTOR (Phosphoinositide-3-kinase/Protein Kinase B/mechanistic target of rapamycin) signaling pathway plays a major role in cellular processes in the normal cell such as proliferation, growth, angiogenesis, cell survival, and metabolism. Somatic activating mutations of genes in this pathway cause phenotypically heterogeneous, but overlapping segmental overgrowth disorders: PIK3CA-Related Overgrowth Spectrum (PROS) caused by mutations in PIK3CA and Proteus syndrome (PS) caused by a single mutation in AKT1, c.49G>A, pGlu17Lys. The significant morbidity and mortality of these progressive disorders, together with their identified molecular pathogenesis, make them good candidates for targeted inhibitory drug therapies. We have conducted two separate trials of PROS and PS, each with differing drugs – one, off-label, and the other, an unapproved, oncology agent. A comparative review of the design, objectives, endpoints, monitoring, and results highlight the unique characteristics of these trials, and have implications for future studies of these and related disorders.

Genome-Wide DNA Methylation: A Functional Tool for Classifying Genomic Variants in Overgrowth Syndromes

Rosanna Weksberg

At the end of the session, the participants will be able to:

  • Describe epigenetic marks and their role in normal development and in the pathophysiology of overgrowth disorders
  • Delineate the range of human overgrowth syndromes caused by mutations in epigenetic regulators or epigenes
  • Describe how functional epigenetic studies can be used to classify genomic variants of unknown significance for overgrowth syndromes

The overgrowth-intellectual disability syndromes: deciphering the molecular basis and clinical characteristics

Katrina Tatton-Brown, Consultant and Reader in Clinical Genetics, Consultant and Reader in Clinical Genetics, London UK

At the end of the session, the participants will be able to:

  • Identify the key clinical characteristics that define an overgrowth-intellectual disability (OGID) syndrome
  • Identify the key OGID genes and their relative contributions to the OGID syndromes
  • Recognise the clinical features that help distinguish individual OGID syndromes
  • Identify the two key OGID gene families and their member genes

Human overgrowth intellectual disability (OGID) syndromes are a nebulous group of conditions with height and/or head circumference ≥ 2SD above the mean, together with additional phenotypic abnormalities, the commonest of which is intellectual disability. To explore the genetic architecture of human OGID syndromes and growth control, we performed experimental and bioinformatic analyses of 710 individuals. We identified causal mutations, targeting 14 different genes, in 50% of patients including patients with clustered protein truncating variants (PTVs) in a new developmental disorder/OGID gene, HIST1H1E. The pathogenic HIST1H1E mutations are predicted to result in a product that is less effective in neutralizing negatively charged linker DNA because it has a reduced net charge, and in DNA binding and protein-protein interactions because key residues are truncated.   

The OGID genes broadly belonged to two different families: the epigenetic regulator gene family and the PI3K/MTOR pathway gene family. Mutations in six epigenetic regulation genes- NSD1, EZH2, DNMT3A, CHD8, HIST1H1E, and EED- accounted for 44% of individuals (311/710). There were fewer patients with mutations in the PI3K/MTOR pathway genes which could be explained by different clinical presentations (regional as opposed to global overgrowth) and/or diagnostic testing prior to recruitment to our study.    

There was significant overlap between the 14 genes involved in OGID and 611 genes in regions identified in GWASs to be associated with height (p = 6.84 × 10-8), suggesting that a common variation impacting function of genes involved in OGID influences height at a population level. In addition, we identified significant overlap between OGID genes and 260 somatically mutated cancer driver genes although differences in mutational spectra in the epigenetic regulator OGID genes may explain the low incidence of cancers in individuals with constitutive mutations in members of this family.    

Longitudinal clinical studies are now underway to further clarify the phenotypes associated with the 14 OGID genes reported in this study. The results of these studies will inform patient management protocols and optimise the information provided to families.  

Genomics of Autism Spectrum- and Related- Disorders

Stephen W. Sherer, PhD, DSc. FRSC

At the end of the session, the participants will be able to:

  • Deliver an overview of state-of-the-art technologies to dissect the underlying genetic architecture in autism;
  • Discuss how risk genes involved in autism are also being found to be involved in other disorders with similar clinical features;
  • Present the latest research on how genomic discoveries from autism research are empowering the development of new diagnostics, and models for novel medicine development.

Reforming Canadian Policy Surrounding Genetics, Reproduction and Regenerative Medicine: Moving Beyond the Assisted Human Reproduction Act (AHRA)

Vardit Ravitsky, Associate Professor, Université de Montréal, Montréal QC


At the end of the session, the participants will be able to:

  • Engage in a deliberative, inclusive consultation with stakeholders and end users on potential reform of the Assisted Human Reproduction Act (AHRA) pertaining to cellular genomics.
  • Obtain feedback from participants on a proposed set of recommendations (made by our group of experts) and how they can be refined to best address practical issues and concerns.
  • Where possible, obtain validation and endorsement for specific recommendations.


Scientific developments and their expanding international scope demonstrate the pressing need to continue the socio-ethical and policy discussions surrounding the often interconnected fields of genetics/genomics, reproductive, and regenerative medicine. Such discussions can provide policy guidance that is adaptive to the complexities of the emerging field of “cellular genomics.” In 2017 we released a Consensus Statement (  (which is the outcome of a series of 4 workshops, organized by the Centre of Genomics and Policy at McGill University, together with the Stem Cell Network and collaborators from across Canada). This statement is meant to guide the much-needed clarification and reform of the Assisted Human Reproduction Act (AHRA).

To pursue this work, we propose a critical, forward-looking exchange with Canadian stakeholders and end users. The overall objective is to consult and validate our recommendations, to propose effective policy translation. Background documentation will be provided to guide discussions during this break-out lunch session. Findings and recommendations will be revisited at a national end-of-grant Policy Group Workshop and through ongoing interaction with our network of collaborators. The end outcome will be a set of recommendations that capture and align with the values and needs of Canadians.

Where were you on in 1958? Prenatal Diagnosis has become very complex.

Doug Wilson, Professor & department Head, CDM University of Calgary / Alberta Health Services, Calgary AB


At the end of the session, the participants will be able to:

  • be an 'amateur' genetic historian
  • have a better understanding of the ptogress from katyotype to DNA sequencing
  • create a 'genetic trainee' pedigree for their mentors


This session will look at the important prenatal genetic discoveries and the investigators from screening, diagnosis (invasive / non-invasive) to fetal therapy over the 70 plus years.     This session, I hope will be interesting for trainees and genetic attending both clinical and lab based.

Kidney-Urinary Tract Malformation: Genetics, Pathogenesis, and Translational Prospects

Norman Rosenblum, Pediatric Nephrologist, Senior Scientist, The Hospital for Sick Childrem University of Toronto, Toronto ON


At the end of the session, the participants will be able to:

  • Describe the impact of genetics on the diagnosis and management of kidney-urinary tract malformation.
  • Demonstrate how functional analysis of human mutations provides novel insights into kidney-urinary tract malformation.
  • Describe how expression of GLI3 repressor, the Pallister-Hall Syndrome disease allele, disrupts fundamental morphogenetic events during kidney-urinary tract development.


This presentation reviews the morphogenetic development of the kidney and urinary tract and how gene discovery has informed both our understanding of renal morphogenesis and the approach to diagnosis and management of human congenital kidney-urinary tract disorders. The issue of how the functional consequences of gene mutations is approached will be discussed including the particular lens of Palmister-Hall Syndrome and the GLI3 gene.     The session will be of value to medical geneticists, genetic scientists, and trainees.

The role of Genomic testing in Oncology: Success and Pitfalls

Howard Lim, Medical Oncologist, BC Cancer Agency, Vancouver BC

At the end of the session, the participants will be able to:

  • Discuss the role of genomic based testing in oncology
  • Discuss the pitfalls of genomic based testing
  • Discuss the ramifications of germline findings during genomic based testing

Genomic based testing is becoming more common place in oncology with the hopes of providing precision based medicine.  By understanding the key drivers pathways, the hope is to discover which drugs may target a patient's cancer and thereby providing precise treatment.  This data still remains unvalidated and hypothesis generating and in addition, secondary germline findings may also be discovered during the process and should be considered in combination with the patient's consent.   

This session is of value to Medical Geneticists, Trainees, and Cytogeneticists

Precision Genomics

Nada Jabado, Professor of Pediatrics and Human Genetics, Research Institute of the McGill University Health Center, Montréal, QC

At the end of the session, the participants will be able to:

  • Understand the concept of oncohistones; mutations in histones that are associated with a vast type of cancers.
  • Appreciate the ground-breaking discouvereis and novel tools that suggest the dierect role of epigenetic dysregulation on oncogenesis and its downstream effects.
  • Reflect on the critical markers for therapy that may help refine pathological grading of pediatric brain tumors.

Recent studies have shown that chromatin-associated proteins and transcription factors have more somatic alterations than any other class of oncoproteins in childhood CNS tumors. Different Histone H3 genes (H3F3A, Hist3.1B) and variants (K27, G34, K36) can be affected with remarkable specific association between tumor location and type as well as the particular H3 residue or variant that is mutated. We have shown a high prevalence of H3 mutations in pediatric and young adult High Grade Astrocytomas, in as Giant Cell Tumors of the bone and chondroblastomas, and most recently, in Head and Neck Squamous Cell Carcinomas. These sarcomas such ground-breaking discoveries of oncohistones implicate a direct effect of epigenetic misregulation in oncogenesis.

Here, we describe these epigenetic misfits and our knowledge of their effects, along with novel tools needed to study them. We will also discuss how we are harnessing synergies between the approaches of cancer genomics and chemical biology to help make sense of the athogenesis of oncohistones and describe how they promote global redistribution of important epigenetic marks, seemingly hijacking our epigenome. The session will be of value to a vast array of specialists including Medical Geneticists and Neuro-oncologists.


Rick Guidotti

Rick Guidotti, an award-winning photographer, has spent the past twenty years collaborating internationally with advocacy organizations/NGOs,hospitals, medical schools, universities and other educational institutions to affect a sea-change in societal attitudes towards individuals living with genetic,physical, behavioral or intellectual difference; his work has been published in newspapers, magazines and journals as diverse as Elle, GQ, People, the American Journal of Medical Genetics, The Lancet, Spirituality and Health,the Washington Post, Atlantic Monthly and LIFE Magazine.

Rick is the founder and director of Positive Exposure, an innovative arts,education and advocacy organization. Positive Exposure utilizes the visual arts to significantly impact the fields of genetics, medical education, medicine,mental health and human rights, by providing new opportunities to see an individual living with a difference, first and foremost as a human being, rather than as a specific diagnosis or disease entity.

The Positive Exposure photographic exhibition premiered at the People’s Genome Celebration at the Smithsonian’s National Museum of Natural History in June 2001 and remains committed to exhibiting in galleries, museums and public arenas internationally. Positive Exposure continues to create and display ever-evolving community based exhibitions around the world. These collections of images, film and narratives celebrate the richness andbeauty of human diversity.Celebrating the beauty of genetic diversity.

Peter Harris

The Latest information about monogenic forms of polycystic kidney disease (PKD) wil be described.  This will cover genetic complexity of the dominant (ADPKD) and recessive forms (ARPKD).  The importance of allelic effects willillustrate with correlations between specific alleles and phenotypes.  Unusual examples of biallelic “ADPKD” and monoallelic “ARPKD” willillustrate genetic complexity.  While digenic diseases, including between ADPKD and ARPKD alleles will show farther complexity in these disorders, stressing the value of genetic diagnostics in infantile PDK.

At the end of the session, the participants will be able to:

  • Inform about the variety of genes associated with various forms of PKD.
  • Explain the importance of allelic effects in dominant and recessive forms of PKD.
  • Provide examples where diseases modifying loci can significantly worsten the disease outcome.


Vardit Ravitsky








Kim M. Keppler-Noreuil, MD

Associate Investigator
National Human Genome Research Institute
Medical Genomics and Metabolic Genetics Branch
Clinical Genomics Section
National Institutes of Health


Kim Keppler-Noreuil, MD completed her B.A. in Biology and French from Grinnell College in Grinnell, Iowa in 1984. In 1989, she earned her M.D. from Southern Illinois University School of Medicine in Springfield, Illinois. She completed her pediatric residency at the Arkansas Children’s hospital, University of Arkansas for Medical Science in Little Rock, Arkansas in 1992, and her fellowship in Medical Genetics in the Department of Pediatrics, Laboratory of Medical Genetics at the University of Alabama at Birmingham in Birmingham, Alabama in 1995. Dr. Keppler-Noreuil served as Instructor of Pediatrics and Medical Genetics at the University of Alabama at Birmingham until 1996. She joined the faculty of the University of Iowa in the Dept. of Pediatrics and Div. of Medical Genetics in 1996 until 2012, where she held an academic position of Professor of Pediatrics. At the University of Iowa, she served as Clinical Director for Birth Defects for the Iowa Registry for Congenital and Inherited Disorders, and Program Director of the Medical Genetics Residency Training Program, Maternal-Fetal Medicine/ Medical Genetics Training Program, Division of Medical Genetics. She also served as Co-Director of the Medical Genetics Course for the first-year medical students. She came to the National Human Genome Research Institute in 2012. Dr. Keppler-Noreuil clinical and research interests have included further delineation of the clinical findings and complications in PROS and Proteus syndrome, and the role of somatic mutations in the PI3K/AKT/mTOR pathway, and development of targeted clinical drug treatment trials for these disorders. Her other areas of research have included clinical delineation of multiple malformation syndromes, and studies of epidemiology and pathogenesis of birth defects, and genetic disorders.